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Phenotypes Associated with This Genotype
Genotype
MGI:3811541
Allelic
Composition
Bmp4tm2Blh/Bmp4+
Genetic
Background
involves: 129S6/SvEvTac * Black Swiss * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp4tm2Blh mutation (1 available); any Bmp4 mutation (21 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
renal/urinary system
• at birth, 53% have grossly identifiably anomalies in the kidneys and urinary tract of these 47% are on the right side only, 15% are on the left side only and 38% are bilateral
• small kidney with regions devoid of nephrogenic components that are instead filled with cysts and stromal mesenchymal cells
• at E12.5, the number of condensed mesenchyme per kidney is reduced; however, nephron density per se is not noticeably reduced
• at E16.5, condensed and noninduced mesenchymal cells are reduced in number
• at E14.5, a significantly higher number of apoptotic (TUNEL+) cells is detected in the stromal cell population of metanephric mesenchyme, unlike in wild-type controls
• at E14.5, in small kidneys the superficial nephrogenic zone is always thinner with a reduced number of nephrogenic components (J:61482)
• at E16.5, superficial nephrogenic components are lacking; however, the apoptotic activity in the nephrogenic zone is similar to that of wild-type controls (J:82895)
• dilated caliceal space with thinning of the renal parenchyma
• ureterovesical junction-type hydronephrosis is seen in 32% of mice with gross abnormalities
• small kidney with regions devoid of nephrogenic components that are instead filled with cysts and stromal mesenchymal cells
• difference in kidney size is detectable at E14.5
• 60% of mice with gross anomalies show variably reduced kidney mass with microscopically dysplastic regions
• 8% of mice with gross anomalies show duplex kidney with bifid ureter
• at E16.5 and P0, ureters are dilated with abnormal winding and kinking in the middle portions
• at E13.5, the ureter still drains into the Wolffian duct unlike in wild-type controls (J:61482)
• at E15.5, smooth muscle development of the ureter is impaired; however, the size of the ureter lumen and morphology of the ureter epithelium remain normal (J:82895)
• at E15.5, the % of alpha-SMA-expressing smooth muscle cells against total mesenchymal cells around the epithelium at the most cranial portion of the ureter is significantly lower than that in wild-type controls
• 8% of mice with gross anomalies show duplex kidney with bifid ureter
• arise from duplex kidney and unite caudally to form a single ureter that drains into the bladder
• variably dilated
• in the most severely affected embryos the ureter fails to connect to the bladder, connecting instead to the seminal vesicles or vas deferens
• accompanies hydronephrosis
• ectopic ureterovesical (UV) junction
• at E16.5, ectopia of the ureterovesical orifice is observed, with the orifice located closer to the urethral orifice and the distance between the right and left ureteral orifices reduced
• at E11.5, the secondary buds are smaller
• at E11.5, both the main trunk and the stems of the first 2 branches of the ureter are significantly shorter
• at E11.5, 2 of 19 mice had accessory buds forming from the main stem of the ureter
• at E11, the primary bud is positioned opposite the approximately 25th somite where in wild-type controls it is opposite the approximately 26th somite

embryo
• at E14.5, a significantly higher number of apoptotic (TUNEL+) cells is detected in the stromal cell population of metanephric mesenchyme, unlike in wild-type controls
• at E12.5, the common mesonephric duct is longer compared to wild-type controls

cellular
• at E14.5, a significantly higher number of apoptotic (TUNEL+) cells is detected in the stromal cell population of metanephric mesenchyme, unlike in wild-type controls

growth/size/body
• small kidney with regions devoid of nephrogenic components that are instead filled with cysts and stromal mesenchymal cells

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
urinary system disease DOID:18 J:61482


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
04/09/2024
MGI 6.23
The Jackson Laboratory